Sabine S. Rudnik‐schöneborn - Genetic Mutations

Author Information

Sabine Rudnik-Schöneborn is affiliated with the Division of Human Genetics at the Medical University Innsbruck in Innsbruck, Austria. She is a prominent figure in the field of genetics, known for her extensive research and contributions to various genetic disorders and counseling practices.

Research Contributions

Sabine Rudnik-Schöneborn has made significant contributions to the field of genetics through her research on various genetic disorders and syndromes. Her recent work includes studies on the polymorphic AT-repeat causing allele dropout in MME mutational hotspot exon, the role of ACBD6 in protein myristoylation, and identifying biallelic PAN2 variants linked to neurodevelopmental disorders. She has also explored the genetic counseling guidelines for infertility and recurrent miscarriage, the professional challenges faced by genetic counselors in German-speaking countries, and the ethical discussions surrounding non-invasive prenatal tests. Her research is not only pivotal in understanding genetic mutations and their implications but also in shaping the guidelines and practices in genetic counseling.

Aliases

Sabine Rudnik-Schöneborn is also known by several aliases, including S. Rudnik-Schöneborn, Sabine Rudnik-Schöneborn, Sabine S. Rudnik-Schöneborn, S Rudnik-Schöneborn, and Sabine Rudnik-Schöneborn. These variations are often seen in different publications and citation records.

Publication and Citation Metrics

Metric	Value
h-index	58
Citation Count	11,111
Paper Count	214

Publications:

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

DOI: 10.1136/jmedgenet-2021-108281

Year: 2022

Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction

DOI: 10.1371/journal.pone.0267678

Year: 2022

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

DOI: 10.1038/s41431-022-01077-y

Year: 2022

Reply: CFTR analysis should not be offered to all patients with unexplained azoospermia in the presence of normal gonadotropin levels.

DOI: 10.1093/humrep/deab073

Year: 2021

Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage

DOI: 10.1515/medgen-2021-2051

Year: 2021

Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop

DOI: 10.1515/medgen-2021-2055

Year: 2021

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

DOI: 10.1002/ana.26127

Year: 2021

Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

DOI: 10.1002/ajmg.a.62433

Year: 2021

Do non-invasive prenatal tests promote discrimination against people with Down syndrome? What should be done?

DOI: 10.1515/jpm-2021-0204

Year: 2021

The genetic counseling profession in Austria: Stakeholders’ perspectives

DOI: 10.1002/jgc4.1389

Year: 2021

What is the Evolutionary Perspective?

How Are Transversions Detected and Analyzed?

What are the Limitations and Challenges?

How Do Point Mutations Occur?

How Do Genetic Mutations Affect Drug Response?

What is Mutagenesis?

How Can Radiation Exposure Be Measured?

What are Techniques Used in Molecular Genetics?

How Does PacBio's SMRT Technology Work?

Can Gene Amplification Be Targeted Therapeutically?

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